Ignite Creation Date:
2025-12-24 @ 7:12 PM
Ignite Modification Date:
2025-12-27 @ 7:30 PM
Study NCT ID:
NCT01914003
Status:
COMPLETED
Last Update Posted:
2017-11-06
First Post:
2013-07-22
Is NOT Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C538139', 'term': 'Sucrase-isomaltase deficiency, congenital'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'hsmith@onepatientservices.com', 'phone': '919-832-4949', 'title': 'Heather Smith, Director of One Patient Services', 'organization': 'QOL Medical, LLC'}, 'certainAgreement': {'otherDetails': 'As outlined in each Clinical Trial Agreement between Sponsor and PI.', 'restrictionType': 'OTHER', 'piSponsorEmployee': False, 'restrictiveAgreement': True}}, 'adverseEventsModule': {'timeFrame': 'Monitoring for adverse events occurred throughout the study, but none were expected or reported as no study drug was involved and minimally invasive procedures were used to obtain genetic and breath samples.', 'eventGroups': [{'id': 'EG000', 'title': 'CSID Mutations', 'description': 'Individual has one or more known CSID mutations.', 'otherNumAtRisk': 27, 'otherNumAffected': 0, 'seriousNumAtRisk': 27, 'seriousNumAffected': 0}, {'id': 'EG001', 'title': 'Control', 'description': 'Individual does not have any known CSID mutations.', 'otherNumAtRisk': 26, 'otherNumAffected': 0, 'seriousNumAtRisk': 26, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Prevalence of CSID Genetic Variants', 'denoms': [{'units': 'Participants', 'counts': [{'value': '27', 'groupId': 'OG000'}, {'value': '26', 'groupId': 'OG001'}]}], 'groups': [{'id': 'OG000', 'title': 'CSID Mutations', 'description': 'Individual has one or more known CSID mutations.'}, {'id': 'OG001', 'title': 'Control', 'description': 'Individual does not have any known CSID mutations.'}], 'classes': [{'categories': [{'measurements': [{'value': '27', 'groupId': 'OG000'}, {'value': '0', 'groupId': 'OG001'}]}]}], 'paramType': 'NUMBER', 'timeFrame': '1 year', 'description': 'Prevalence of CSID genetic variants in subjects 18 years of age or younger with a primary symptom of chronic idiopathic diarrhea or chronic abdominal pain without constipation.', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'CSID Mutations', 'description': 'Individual has one or more known CSID mutations.'}, {'id': 'FG001', 'title': 'Control', 'description': 'Individual does not have any known CSID mutations.'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '27'}, {'groupId': 'FG001', 'numSubjects': '26'}]}, {'type': 'COMPLETED', 'achievements': [{'comment': 'Number of subjects who completed through study and qualify as evaluable', 'groupId': 'FG000', 'numSubjects': '19'}, {'comment': 'Number of subjects who completed through study and qualify as evaluable', 'groupId': 'FG001', 'numSubjects': '14'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '8'}, {'groupId': 'FG001', 'numSubjects': '12'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '27', 'groupId': 'BG000'}, {'value': '26', 'groupId': 'BG001'}, {'value': '53', 'groupId': 'BG002'}]}], 'groups': [{'id': 'BG000', 'title': 'CSID Mutations', 'description': 'Individual has one or more known CSID mutations.'}, {'id': 'BG001', 'title': 'Control', 'description': 'Individual does not have any known CSID mutations.'}, {'id': 'BG002', 'title': 'Total', 'description': 'Total of all reporting groups'}], 'measures': [{'title': 'Age, Categorical', 'classes': [{'categories': [{'title': '<=18 years', 'measurements': [{'value': '27', 'groupId': 'BG000'}, {'value': '26', 'groupId': 'BG001'}, {'value': '53', 'groupId': 'BG002'}]}, {'title': 'Between 18 and 65 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': '>=65 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '8', 'groupId': 'BG000', 'lowerLimit': '1', 'upperLimit': '13'}, {'value': '10.5', 'groupId': 'BG001', 'lowerLimit': '6.25', 'upperLimit': '16'}, {'value': '9', 'groupId': 'BG002', 'lowerLimit': '2', 'upperLimit': '15'}]}]}], 'paramType': 'MEDIAN', 'unitOfMeasure': 'years', 'dispersionType': 'INTER_QUARTILE_RANGE'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '14', 'groupId': 'BG000'}, {'value': '16', 'groupId': 'BG001'}, {'value': '30', 'groupId': 'BG002'}]}, {'title': 'Male', 'measurements': [{'value': '13', 'groupId': 'BG000'}, {'value': '10', 'groupId': 'BG001'}, {'value': '23', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '27', 'groupId': 'BG000'}, {'value': '26', 'groupId': 'BG001'}, {'value': '53', 'groupId': 'BG002'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 53}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-08', 'completionDateStruct': {'date': '2015-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-10-02', 'studyFirstSubmitDate': '2013-07-22', 'resultsFirstSubmitDate': '2016-07-07', 'studyFirstSubmitQcDate': '2013-07-31', 'lastUpdatePostDateStruct': {'date': '2017-11-06', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2016-08-16', 'studyFirstPostDateStruct': {'date': '2013-08-01', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2016-10-10', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2015-05', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of CSID Genetic Variants', 'timeFrame': '1 year', 'description': 'Prevalence of CSID genetic variants in subjects 18 years of age or younger with a primary symptom of chronic idiopathic diarrhea or chronic abdominal pain without constipation.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Congenital Sucrase-isomaltase Deficiency (CSID)']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://www.csidgps.com', 'label': 'Study overview'}]}, 'descriptionModule': {'briefSummary': 'Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain. Children with chronic, idiopathic diarrhea or abdominal pain will have their sucrose-isomaltase gene assessed for a panel of known CSID mutations to determine the prevalence of these mutations in an enriched population and also determine functional deficiency using a breath test.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '18 years of age or younger experiencing chronic, idiopathic diarrhea or abdominal pain for at least 4 weeks.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Must be 18 years of age or younger.\n* A primary clinical diagnosis of chronic idiopathic diarrhea or chronic abdominal pain for at least 4 weeks.\n* English or Spanish speaking subjects and parent(s)/guardian only.\n* Parental consent from one parent/guardian and also subject assent when appropriate based on individual IRB requirements.\n\nExclusion Criteria:\n\n* Any condition(s) or finding(s) that in the opinion of the principal investigator suggests an alternative diagnosis for his/her gastrointestinal symptoms.\n* Abdominal pain primarily related to constipation.\n* Suspected gastrointestinal infectious disease.\n* No current use of sacrosidase (Sucraid® Oral Solution).\n* Known gastrointestinal disease such as celiac disease.\n* Prior consumption of an investigational medication within the last 4 weeks.\n* Antibiotics in the last 2 weeks, and no history of viral gastroenteritis within that same period of time.\n* Known Hepatitis B or C infection (positive HBsAg or HCV within 6 months of enrollment) or Subject-Pugh Class C liver disease of any cause, HIV infection, tuberculosis, Clostridia difficile co-infection, cancer or systemic infections.\n* Severe neurologic impairment that would prevent them from reporting a history of abdominal pain.\n* Receiving or received biologic therapies (including infliximab, adalimumab, natalizumab) within 3 months prior to or at enrollment.\n* Present or past use of immune modulators therapy (e.g., azathioprine, 6MP, methotrexate).\n* Planned or previous abdominal surgery (e.g., bowel resection).\n* Subjects with severe, uncontrolled systemic diseases.\n* Presence of clinical alarm signs, including hypotension, anemia requiring blood transfusions, altered mental status, or inability to tolerate food and/or fluids by mouth.'}, 'identificationModule': {'nctId': 'NCT01914003', 'acronym': 'CSID GPS', 'briefTitle': 'Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)', 'organization': {'class': 'INDUSTRY', 'fullName': 'QOL Medical, LLC'}, 'officialTitle': 'A Multi-Center Study of the Prevalence of Known Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Variants and Functional Sucrase Activity by 13C-Sucrose Breath Test in Children With Chronic Diarrhea or Chronic Abdominal Pain', 'orgStudyIdInfo': {'id': 'S2002'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'CSID Mutations', 'description': 'Individual has one or more known CSID mutations.'}, {'label': 'Control', 'description': 'Individual does not have any known CSID mutations.'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Los Angeles', 'state': 'California', 'country': 'United States', 'facility': "Children's Hospital Los Angeles", 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}, {'city': 'Oakland', 'state': 'California', 'country': 'United States', 'facility': "Children's Hospital and Research Center of Oakland", 'geoPoint': {'lat': 37.80437, 'lon': -122.2708}}, {'city': 'Aurora', 'state': 'Colorado', 'country': 'United States', 'facility': "Children's Hospital of Colorado", 'geoPoint': {'lat': 39.72943, 'lon': -104.83192}}, {'city': 'Orlando', 'state': 'Florida', 'country': 'United States', 'facility': "Arnold Palmer Children's Hospital", 'geoPoint': {'lat': 28.53834, 'lon': -81.37924}}, {'city': 'Atlanta', 'state': 'Georgia', 'country': 'United States', 'facility': "Children's Center for Digestive Healthcare", 'geoPoint': {'lat': 33.749, 'lon': -84.38798}}, {'city': 'Chicago', 'state': 'Illinois', 'country': 'United States', 'facility': "Ann & Robert H. Lurie Children's Hospital of Chicago", 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'city': 'Indianapolis', 'state': 'Indiana', 'country': 'United States', 'facility': 'Riley Hospital for Children', 'geoPoint': {'lat': 39.76838, 'lon': -86.15804}}, {'city': 'Baltimore', 'state': 'Maryland', 'country': 'United States', 'facility': "Johns Hopkins Children's Center", 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}, {'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Massachusetts General Hospital', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'city': 'Jackson', 'state': 'Mississippi', 'country': 'United States', 'facility': 'University of Mississippi Medical Center', 'geoPoint': {'lat': 32.29876, 'lon': -90.18481}}, {'city': 'Kansas City', 'state': 'Missouri', 'country': 'United States', 'facility': "Children's Mercy Hospital", 'geoPoint': {'lat': 39.09973, 'lon': -94.57857}}, {'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': "Morgan Stanley Children's Hospital", 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'city': 'Stony Brook', 'state': 'New York', 'country': 'United States', 'facility': 'Stony Brook University', 'geoPoint': {'lat': 40.92565, 'lon': -73.14094}}, {'city': 'Durham', 'state': 'North Carolina', 'country': 'United States', 'facility': "Duke University Children's Hospital", 'geoPoint': {'lat': 35.99403, 'lon': -78.89862}}, {'city': 'Columbus', 'state': 'Ohio', 'country': 'United States', 'facility': "Nationwide Children's Hospital", 'geoPoint': {'lat': 39.96118, 'lon': -82.99879}}, {'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': "Texas Children's Hospital", 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'city': 'Salt Lake City', 'state': 'Utah', 'country': 'United States', 'facility': "Primary Children's Medical Center", 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}, {'city': 'Milwaukee', 'state': 'Wisconsin', 'country': 'United States', 'facility': "Children's Hospital of Wisconsin", 'geoPoint': {'lat': 43.0389, 'lon': -87.90647}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'QOL Medical, LLC', 'class': 'INDUSTRY'}, 'collaborators': [{'name': 'Arnold Palmer Hospital for Children', 'class': 'OTHER'}, {'name': 'Baylor College of Medicine', 'class': 'OTHER'}, {'name': "Nationwide Children's Hospital", 'class': 'OTHER'}, {'name': "Ann & Robert H Lurie Children's Hospital of Chicago", 'class': 'OTHER'}, {'name': 'University of Mississippi Medical Center', 'class': 'OTHER'}, {'name': "Children's Hospital and Research Center at Oakland", 'class': 'UNKNOWN'}, {'name': 'Columbia University', 'class': 'OTHER'}, {'name': "Children's Hospital Los Angeles", 'class': 'OTHER'}, {'name': "Children's Hospital and Health System Foundation, Wisconsin", 'class': 'OTHER'}, {'name': "Children's Center for Digestive Healthcare, LLC", 'class': 'UNKNOWN'}, {'name': 'Massachusetts General Hospital', 'class': 'OTHER'}, {'name': 'Duke University', 'class': 'OTHER'}, {'name': 'Johns Hopkins University', 'class': 'OTHER'}, {'name': "Children's Hospital of Philadelphia", 'class': 'OTHER'}, {'name': "Children's Mercy Hospital Kansas City", 'class': 'OTHER'}, {'name': "Children's Hospital Colorado", 'class': 'OTHER'}, {'name': "Riley Children's Hospital", 'class': 'UNKNOWN'}, {'name': "Primary Children's Hospital", 'class': 'OTHER'}, {'name': 'State University of New York - Downstate Medical Center', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}